(Q37761093)

22 August 2017

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title

ARX spectrum disorders: making inroads into the molecular pathology (English)

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22 August 2017

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3

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22 August 2017

Cheryl Shoubridge

1

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author name string

Tod Fullston

series ordinal

2

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22 August 2017

1 August 2010

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22 August 2017

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22 August 2017

31

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22 August 2017

8

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22 August 2017

889-900

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The ARX mutations: a frequent cause of X-linked mental retardation.

22 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

ARX mutations in X-linked lissencephaly with abnormal genitalia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

Deletion of ultraconserved elements yields viable mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The other trinucleotide repeat: polyalanine expansion disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Ultraconserved Elements in the Human Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

SHOXHaploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Homeodomain revisited: a lesson from disease-causing mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Dlx transcription factors promote migration through repression of axon and dendrite growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Embryonic endocrine pancreas and mature beta cells acquire alpha and PP cell phenotypes upon Arx misexpression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Opposing actions of Arx and Pax4 in endocrine pancreas development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

exma: an X-linked insertional mutation that disrupts forebrain and eye development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The role of ARX in cortical development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Identification of Arx transcriptional targets in the developing basal forebrain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

ARX: a gene for all seasons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The genetic landscape of intellectual disability arising from chromosome X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Screening of the ARX gene in 682 retarded males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mice deficient for glucagon gene-derived peptides display normoglycemia and hyperplasia of islet {alpha}-cells but not of intestinal L-cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Expression of Groucho/TLE proteins during pancreas development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Neurogenin3 is differentially required for endocrine cell fate specification in the intestinal and gastric epithelium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Structural basis for nuclear import complex dissociation by RanGTP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Activin A decreases glucagon and arx gene expression in alpha-cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

microRNAs and genetic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Molecular mechanisms underlying polyalanine diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Importin 13: a novel mediator of nuclear import and export

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The spectrum of hypopituitarism caused by PROP1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Human ARX gene: genomic characterization and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Heterozygous mutations of OTX2 cause severe ocular malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Expansion of the ARX spectrum.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Ghrelin is a novel target of Pax4 in endocrine progenitors of the pancreas and duodenum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

[Molecular genetic study of the PAX6 gene in aniridia patients]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21288

7 January 2021

Identifiers

DOI

10.1002/HUMU.21288

1 reference

22 August 2017

1 reference

PubMed ID

20506206